A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference9 articles.
1. Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia;Dulac;Handb Clin Neurol,2013
2. A known and a novel mutation in the glycine decarboxylase gene in a newborn with classic nonketotic hyperglycinemia;Beijer;Neuropediatrics,2012
3. Natural history of nonketotic hyperglycinemia in 65 patients;Hoover-Fong;Neurology,2004
4. Prediction of long-term outcome in glycine encephalopathy: a clinical survey;Hennermann;J Inherit Metab Dis,2012
5. Clinical Reasoning: a 2 day old baby girl with encephalopathy and burst suppression on EEG;Dhamija;Neurology,2011
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1. Natural history and outcome of nonketotic hyperglycinemia in China;Frontiers in Neurology;2024-08-14
2. A Case of Neonatal Encephalopathy;NeoReviews;2024-05-01
3. Glycine encephalopathy;The Egyptian Journal of Neurology, Psychiatry and Neurosurgery;2022-11-17
4. Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management;Metabolic Brain Disease;2020-10-23
5. A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report;Translational Pediatrics;2020-10
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